Prenatal diagnosis and tridimensional ultrasound features of bilateral femoral hypoplasia - Unusual facies syndrome

Abstract

The femoral hypoplasia- unusual facies syndrome is a rare disorder, which was described first three decades ago. It is characterised by the occurrence of short femurs with certain associated alterations mainly affecting the face, of which micrognathia is the most frequently found. Although the etiology of this condition is unknown, clear relationship with maternal insulin-dependent diabetes has often been reported, which suggests some sort of inherited component. Nevertheless, most cases occur sporadically. This entity is usually diagnosed after birth because prenatal ultrasound detection is rather difficult. Here, we report a case of prospective detection. So far, such cases have been seldom described in the literature.